Results 11 to 20 of about 1,764 (178)

An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review [PDF]

Clinical Case Reports
Tyrosinemia type 1 often manifests with liver, renal, or peripheral neuropathy disorders. Before therapies like nitisinone, management was limited to dietary modifications and liver transplantation.
Mahsa Rouhafshari, Mohammad Hadi Imanieh, Mahdi Khazaei, Zahra Radaei, Hamide Barzegar   +4 more
doaj   +3 more sources

Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4‐oxo 6‐hydroxyhepanoate (4OHHA), a putative diagnostic biomarker [PDF]

JIMD Reports
Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease resulting in acute liver failure in early infancy, hypophosphataemic rickets, neurological crises, liver cirrhosis and risk of hepatocellular carcinoma later on in life.
Preeya Rehsi, Karolina Witek, Erin Emmett, Rachel Carling, Charles Turner, Neil Dalton, Tim Hutchin, Nedim Hadzic, Anil Dhawan, Roshni Vara   +9 more
doaj   +3 more sources

Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries. [PDF]

J Inherit Metab Dis
Hepatorenal tyrosinaemia (HT1) is an autosomal recessive disorder of tyrosine degradation resulting in hepatic and renal dysfunction, neurological sequelae may occur in some patients.
Das AM, Ballhausen D, Haas D, Häberle J, Hagedorn T, Janson-Mutsaerts C, Janzen N, Sander J, Freisinger P, Karall D, Meyer U, Mönch E, Morlot S, Rosenbaum-Fabian S, Scholl-Bürgi S, Vom Dahl S, Weinhold N, Zeman J, Lange K.   +18 more
europepmc   +4 more sources

Developing an explainable machine learning model to predict false-negative citrin deficiency cases in newborn screening [PDF]

Orphanet Journal of Rare Diseases
Background Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD) is an autosomal recessive disorder affecting the urea cycle and energy metabolism.
Peiyao Wang, Haomin Li, Xinjie Yang, Lingwei Hu, Yuhe Chen, Ziyan Cen, Pingping Ge, Qimin He, Benqing Wu, Xinwen Huang   +9 more
doaj   +2 more sources

Reply to Bouva et al. Comment on "Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66". [PDF]

Int J Neonatal Screen
We thank the authors for their comments [...].
Dijkstra AM, Evers-van Vliet K, Heiner-Fokkema MR, Bodewes FAJA, Bos DK, Zsiros J, van Aerde KJ, Koop K, van Spronsen FJ, Lubout CMA.   +9 more
europepmc   +5 more sources

Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model [PDF]

European Thyroid Journal, 2023
Objective: Congenital hypothyroidism (CH) is an inborn thyroid hormone (TH) deficiency mostly caused by thyroidal (primary CH) or hypothalamic/pituitary (central CH) disturbances.
Heleen I Jansen, Marije van Haeringen, Marelle J Bouva, Wendy P J den Elzen, Eveline Bruinstroop, Catharina P B van der Ploeg, A S Paul van Trotsenburg, Nitash Zwaveling-Soonawala, Annemieke C Heijboer, Annet M Bosch, Robert de Jonge, Mark Hoogendoorn, Anita Boelen   +12 more
doaj   +2 more sources

Extensive Dysregulation of Phenylalanine Metabolism Is Associated With Stress Hyperphenylalaninemia and 30‐Day Death in Critically Ill Patients With Acute Decompensated Heart Failure [PDF]

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Stress hyperphenylalaninemia predicts elevated mortality rates in patients with acute decompensated heart failure (ADHF). This study investigated the metabolic pathways underlying this association and identified a unique metabolic phenotype ...
Wei‐Siang Chen, Min‐Hui Liu, Yi‐Liang Tsou, Huang‐Ping Wu, Hsuan‐Ching Lin, Chung‐Yu Liang, Chao‐Hung Wang   +6 more
doaj   +2 more sources

Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1 [PDF]

International Journal of Neonatal Screening
Hereditary tyrosinemia type I (HT1), or hepatorenal tyrosinemia, is an amino acid disorder which may cause hepatic failure as well as renal and neurologic comorbidities. Early detection of this disorder is possible with newborn screening (NBS).
Barbra Charina V. Cavan, Leniza G. de Castro-Hamoy, Conchita G. Abarquez, Ebner Bon G. Maceda, Maria Melanie Liberty B. Alcausin   +4 more
doaj   +2 more sources

Signaling metabolite succinylacetone activates HIF-1α and promotes angiogenesis in GSTZ1-deficient hepatocellular carcinoma

JCI Insight, 2023
Aberrant angiogenesis in hepatocellular carcinoma (HCC) is associated with tumor growth, progression, and local or distant metastasis. Hypoxia-inducible factor 1α (HIF-1α) is a transcription factor that plays a major role in regulating angiogenesis ...
Huating Luo, Qiujie Wang, Fan Yang, Rui Liu, Qingzhu Gao, Bin Cheng, Xue Lin, Luyi Huang, Chang Chen, Jin Xiang, Kai Wang, Bo Qin, Ni Tang   +12 more
doaj   +3 more sources

Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes [PDF]

Orphanet Journal of Rare Diseases
The third known case in the country of Tyrosinemia type 1 is presented, a 10-month-old male infant who was referred to the emergency room due to hepatomegaly, compromised liver function, neurological deterioration, and abnormal urinary amino acids ...
Michael Vallejo, Valentina Villarreal, María Alejandra Guardiola, William Bachiller, Malory Moreno, Pedro Vargas, Lyssethe Juliana López   +6 more
doaj   +2 more sources